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About us

The Division of Medical Genetics at Cohen Children’s diagnoses and participates in the care of children and adults with inherited and sporadic genetic disorders, including chromosomal disorders and those caused by single genes. Genetic diseases affect children of all ages and ethnicities, impacting virtually all medical specialties.

Evaluations are conducted by a medical geneticist and a genetic counselor for children and adults with:

  • Mental retardation
  • Autism
  • Birth defects
  • Inborn errors of metabolism
  • Hearing loss 

Our division also provides comprehensive services in the diagnosis, treatment and management of all forms of hereditary disorders including:

  • Teratogen exposure
  • Recurrent miscarriages
  • Abnormal fetal ultrasounds
  • Abnormal maternal screening
  • A family history of known or suspected chromosomal or inherited disorders
  • Genetic counseling prior to prenatal diagnostic testing, such as chorionic villus sampling and amniocentesis

Genetic consultation and testing for susceptibility to breast and ovarian cancer and colon cancer are also offered.

Certain inherited diseases occur more frequently in a given ethnic or racial group:

  • Individuals of African-American, Hispanic or Mediterranean descent:
    • Sickle cell anemia - a disease passed down through families in which red blood cells form an abnormal crescent shape
    • Thalassemia - a disease that makes an abnormal form of hemoglobin resulting in excessive destruction of red blood cells and anemia
  • Individuals of Ashkenazi Jewish descent:
    • Fanconi anemia - a chronic disease in which children have short stature, birth defects, bone marrow failure and an increased risk of leukemia
    • Tay-Sachs disease - a progressive degenerative neurologic disease that usually results in death by the age of 4-5 years
    • Canavan disease - a severe neurodegenerative disease that causes seizures, an enlarged head and increased muscle tone  
    • Niemann-Pick disease (type A) - another severe progressive neurologic disease of infancy that causes loss of neurologic function and enlargement of the liver and spleen
    • Bloom syndrome - characterized by frequent infections, poor growth and learning disabilities with a predisposition to develop common cancers
    • Mucolipidosis type IV - a lysosomal storage disease that affects the brain and nervous system
    • Gaucher disease - an inherited enzyme with effective treatment available through the lysosomal storage disease program
    • Familial dysautonomia - characterized by failure to thrive, insensitivity to pain, blood pressure instability and frequent episodes of pneumonia
    • Dihydrolipoamide dehydrogenase deficiency - recurrent episodes of vomiting and abdominal pain
    • Familial hyperinsulinism - low blood sugar ranging from mild to severe  
    • Glycogen storage disease type 1a - a metabolic disorder that, if untreated, results in severe low blood sugar, enlarged liver, growth retardation and bleeding disorders
    • Maple syrup urine disease - a metabolic disorder that affects how certain proteins in the body called amino acids are metabolized
    • Nemaline myopathy - a neurologic disorder characterized by weakness and poor muscle tone usually in the neck, face and upper portions of the limbs  
    • Usher syndrome type III - hearing and vision problems that progressively worsen
    • Usher syndrome type IF - profound deafness at birth, severe balance problems, as well as vision impairment

What to expect

After an appointment is scheduled, you may be contacted by a genetic counselor prior to the visit to obtain specific history necessary for the visit and to access results of previous diagnostic evaluations and tests. At the time of the visit, you or your child will be examined by a medical geneticist. Diagnostic tests may be recommended and a consultation will follow. Patients who are interested in prenatal counseling will be seen by a genetic counselor and a medical geneticist.  

Insurance information

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